Canonical Allele Identifier: CA2626239399
Gene: UBR7 HGNC NCBI

Linked Data

gnomAD v4: 14-93218646-C-CCAGAACAGGGAAAGGATGATGTCCGGGAGGTTAAAGTAGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.93218655_93218695dup , CM000676.2:g.93218655_93218695dup GRCh38
NC_000014.8:g.93685001_93685041dup , CM000676.1:g.93685001_93685041dup GRCh37
NC_000014.7:g.92754754_92754794dup NCBI36
NG_051089.1:g.16600_16640dup

Transcript Alleles

HGVS Amino-acid change
ENST00000013070.11:c.730_770dup MANE Select ENSP00000013070.6:p.Ser257ArgfsTer11
ENST00000013070.10:c.730_770dup ENSP00000013070.6:p.Ser257ArgfsTer11
ENST00000416753.5:c.502_542dup ENSP00000391706.2:p.Ser181ArgfsTer11
ENST00000553674.1:c.*431_*471dup ENSP00000450470.1:n.*431_*471dup
ENST00000553857.5:c.378+3374_378+3414dup
NM_175748.3:c.730_770dup NP_786924.2:p.Ser257ArgfsTer11
NR_038150.1:n.832_872dup
NM_175748.4:c.730_770dup MANE Select NP_786924.2:p.Ser257ArgfsTer11
NR_038150.2:n.632_672dup
Search 100 bp 5'
Search 100 bp 3'